Canonical Allele Identifier: CA372448575

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657052G>T (hg19) ; chr8:g.143574882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574882G>T , CM000670.2:g.143574882G>T	GRCh38
NC_000008.10:g.144657052G>T , CM000670.1:g.144657052G>T	GRCh37
NC_000008.9:g.144728195G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1573C>A MANE Select	ENSP00000401508.2:p.Leu525Met
ENST00000340490.7:c.1658C>A	ENSP00000341136.3:p.Ala553Asp
ENST00000426292.7:c.1534C>A	ENSP00000390949.3:p.Leu512Met
ENST00000435154.7:c.*282C>A	ENSP00000405670.3:n.*282C>A
ENST00000449291.6:c.1573C>A	ENSP00000401508.2:p.Leu525Met
ENST00000460623.5:c.597C>A
ENST00000464332.5:n.1117C>A
ENST00000498076.5:n.352C>A
ENST00000529179.1:n.357C>A
NM_001286829.1:c.1534C>A	NP_001273758.1:p.Leu512Met
NM_145201.5:c.1573C>A	NP_660202.3:p.Leu525Met
XM_011517377.1:c.1310C>A	XP_011515679.1:p.Ala437Asp
NM_001363145.1:c.1492C>A	NP_001350074.1:p.Leu498Met
NM_001363146.1:c.889C>A	NP_001350075.1:p.Leu297Met
XM_017013975.2:c.1877C>A	XP_016869464.1:p.Ala626Asp
XM_017013976.2:c.1792C>A	XP_016869465.1:p.Leu598Met
XM_017013977.2:c.1577C>A	XP_016869466.1:p.Ala526Asp
XM_017013978.2:c.1529C>A	XP_016869467.1:p.Ala510Asp
XM_017013979.2:c.974C>A	XP_016869468.1:p.Ala325Asp
XM_024447332.1:c.947C>A	XP_024303100.1:p.Ala316Asp
XM_024447333.1:c.893C>A	XP_024303101.1:p.Ala298Asp
NM_145201.6:c.1573C>A MANE Select	NP_660202.3:p.Leu525Met
NM_001286829.2:c.1534C>A	NP_001273758.1:p.Leu512Met